vcfParser ========= Parses vcf files to reformat/add INFO fields and metaData headers and/or select entries belonging to a subgroup e.g. a list of genes. Input can be piped or supplied as an infile. Usage ----- ``vcfParser.pl infile.vcf > outfile.vcf`` ``vcfParser.pl infile.vcf --parseVEP 1 -rf External_Db.txt -rf_ac 3 -sf genes.v1.0.txt -sf_mc 3 -sf_ac 3,4,11,15,17,20 -sof selected_genes.vcf > outfile.vcf`` Installation ------------- vcfParser is written in Perl, so naturally you need to have Perl installed. The perl module `Set::IntervalTree`_ is required and are used to add "ranged" annotations. VEP ~~~ Parses the output from VEP to include RefSeq transcripts. The transcript and protein annotations, moste severe consequence and gene annotations are also included in the output . Transcript protein predictions (Sift and Polyphen) can also be included. Select Mode ~~~~~~~~~~~ A list of genes and their corresponding HGNC Symbol can be used to fork the analysis into "selected" genes and "orphan" genes. GuideLines on format for database of genes ******************************** - The database file should contain a header line starting with "#". - The number of headers should match the number of field elements for each entry. - Do not use whitespace in headers. - Do not use ";" in file. - Separate elements in fields with ",". Do not use ", ". - No whitespace in the beginning or end within fields. - No entries should be duplicated within database. - Length of gene coordinates should be greater than 0 - Only digits in gene coordinate entries Range Annotations ~~~~~~~~~~~~~~~~~ vcfParser can also add range annotations to the vcf by using the `Set::IntervalTree`_ perl cpan module and a file with chromosomal coordinates and features to be annotated. .. _Set::IntervalTree: https://metacpan.org/pod/Set::IntervalTree